10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

• Published in: Cytogenetic and genome research Vol. 124; no. 1; pp. 102 - 105
• Main Authors: Liehr, T., Stumm, M., Wegner, R.D., Bhatt, S., Hickmann, P., Patsalis, P.C., Meins, M., Morlot, S., Klaschka, V., Ewers, E., Hinreiner, S., Mrasek, K., Kosyakova, N., Cai, W.W., Cheung, S.W., Weise, A.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.01.2009
• Subjects: Amniocentesis; Chromosome Aberrations; Chromosome Banding; Chromosome Breakage; Chromosomes, Human, Pair 10; Comparative Genomic Hybridization; Female; Gene Dosage; Gene Duplication; Genetic Markers; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Microdissection; Oligonucleotide Array Sequence Analysis; Phenotype; Physical Chromosome Mapping; Prenatal Diagnosis; Short Report
• ISSN: 1424-8581; 1424-859X; 1424-859X
• DOI: 10.1159/000200094

Directly transmitted unbalanced chromosomal abnormalities (UBCA) or euchromatic variants (EV) were recently reported for >50 euchromatic regions of almost all human autosomes. UBCA and EV are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on partial trisomies of chromosome 10 within the pericentromeric region which were detected by standard G banding. Those were referred for further delineation of the size of these duplicated regions for molecular cytogenetics and/or array-CGH. Partial trisomies of chromosome 10 in the pericentromeric region were identified prenatally in seven cases. A maximum of three copies of the region from 10p12.1 to 10q11.22 was observed in all cases without apparent clinical abnormalities. The imbalances were either caused by a direct duplication in one familial case or by de novo small supernumerary marker chromosomes (sSMC). Thus, we report a yet unrecognized chromosomal region subject to UBCA detected in seven unrelated cases. To the best of our knowledge, this is the first report of a UBCA in the pericentromeric region of chromosome 10 that is not correlated with any clinical consequences.